Copy number variation at the FCGR locus includes FCGR3A, FCGR2C and FCGR3B but not FCGR2A and FCGR2B.

abstract：:The pathogenesis of cleft lip with or without cleft palate (CL/P) is complex; its onset could be due to the interaction of various genetic and environmental factors. Recently MTHFR functional polymorphisms were found to increase the risk of this common malformation; however, this finding is still debated. We investiga...

journal_title：Human mutation

authors： Pezzetti F,Martinelli M,Scapoli L,Carinci F,Palmieri A,Marchesini J,Carinci P,Caramelli E,Rullo R,Gombos F,Tognon M

更新日期：2004-07-01 00:00:00

abstract：:Choroideremia (CHM) is an X-linked recessive eye disease that results from mutations involving the Rab escort protein-1 (REP-1) gene. In 18 patients deletions of different sizes have been found. Two females suffering from CHM were reported to have translocations that disrupt the REP-1 gene. In 22 patients, small mutat...

journal_title：Human mutation

authors： van den Hurk JA,Schwartz M,van Bokhoven H,van de Pol TJ,Bogerd L,Pinckers AJ,Bleeker-Wagemakers EM,Pawlowitzki IH,Rüther K,Ropers HH,Cremers FP

更新日期：1997-01-01 00:00:00

abstract：:The Human Genome Variation Society annual scientific meeting was held on 26 October 2004 in Toronto, Canada, and attracted 85 registrants. Meeting participants from 14 countries reported on the recent advances and progress made toward the detection, analysis, and documentation of genetic variation. Reports were made o...

journal_title：Human mutation

authors： Oetting WS,Tabone T

更新日期：2005-08-01 00:00:00

abstract：:Human malignant infantile osteopetrosis (arOP) is a genetically heterogeneous autosomal recessive disorder of bone metabolism. The TCIRG1 gene, encoding the a3 subunit of the vacuolar proton pump, which mediates the acidification of the bone/osteoclast interface, is responsible for more than one-half of the arOP patie...

journal_title：Human mutation

authors： Susani L,Pangrazio A,Sobacchi C,Taranta A,Mortier G,Savarirayan R,Villa A,Orchard P,Vezzoni P,Albertini A,Frattini A,Pagani F

更新日期：2004-09-01 00:00:00

abstract：:Autosomal-recessive retinitis pigmentosa (arRP) was recently associated with mutations in a novel gene EYS, spanning over 2 Mb, making it the largest known gene expressed in the human eye. The purpose of this study was to establish the prevalence and nature of EYS mutations in a clinically well-characterized cohort of...

journal_title：Human mutation

authors： Audo I,Sahel JA,Mohand-Saïd S,Lancelot ME,Antonio A,Moskova-Doumanova V,Nandrot EF,Doumanov J,Barragan I,Antinolo G,Bhattacharya SS,Zeitz C

更新日期：2010-05-01 00:00:00

abstract：:Pelizaeus Merzbacher Disease (PMD) is an X-linked recessive dysmyelinating disorder of the central nervous system. Most patients have point mutations in exons of the proteolipid protein (PLP1) gene or duplication of a genomic region that includes the PLP1 gene. We identified a common MspI polymorphism in intron 1 of t...

journal_title：Human mutation

authors： Hobson G,Stabley D,Funanage V,Marks H

更新日期：2001-02-01 00:00:00

abstract：:There is a well-recognized growing need for improved access to online genetic and genomics education for professionals, students, teachers, and the public. Numerous individual online genetic and genomic educational resources have been developed, but many are difficult to identify or locate when required. Consequently,...

journal_title：Human mutation

authors： Tobias AP,Tobias ES

更新日期：2020-12-01 00:00:00

abstract：:Single amino acid substitution is the type of protein alteration most related to human diseases. Current studies seek primarily to distinguish neutral mutations from harmful ones. Very few methods offer an explanation of the final prediction result in terms of the probable structural or functional effect on the protei...

journal_title：Human mutation

authors： Yip YL,Zoete V,Scheib H,Michielin O

更新日期：2006-09-01 00:00:00

abstract：:Although large deletions from the coagulation factor VIII gene, F8, are responsible for 5% of severe hemophilia A (seHA), few of them have been fully characterised. A detailed description of a large partial deletion of the F8 caused by unequal recombination between homeologous AluSx-derived sequences is presented. The...

journal_title：Human mutation

authors： Rossetti LC,Goodeve A,Larripa IB,De Brasi CD

更新日期：2004-11-01 00:00:00

abstract：:D-glyceric aciduria is a rare inborn error of serine and fructose metabolism that was first described in 1974. Most affected individuals have presented with neurological symptoms. The molecular basis of D-glyceric aciduria is largely unknown; possible causes that have been discussed are deficiencies of D-glycerate deh...

journal_title：Human mutation

authors： Sass JO,Fischer K,Wang R,Christensen E,Scholl-Bürgi S,Chang R,Kapelari K,Walter M

更新日期：2010-12-01 00:00:00

abstract：:Rhizomelic chondrodysplasia punctata (RCDP) is a disorder of peroxisome metabolism resulting from a deficiency of plasmalogens, a specialized class of membrane phospholipids. Classically, patients have a skeletal dysplasia and profound mental retardation, although milder phenotypes are increasingly being identified. I...

journal_title：Human mutation

authors： Itzkovitz B,Jiralerspong S,Nimmo G,Loscalzo M,Horovitz DD,Snowden A,Moser A,Steinberg S,Braverman N

更新日期：2012-01-01 00:00:00

abstract：:Disaccharide intolerance I or congenital sucrase-isomaltase deficiency (CSID) is a disorder leading to maldigestion of disaccharides, which is autosomal recessively inherited. Here we analyzed the sucrase-isomaltase (SI) gene from 11 patients of Hungarian origin with congenital sucrase-isomaltase deficiency. Variants ...

journal_title：Human mutation

authors： Sander P,Alfalah M,Keiser M,Korponay-Szabo I,Kovács JB,Leeb T,Naim HY

更新日期：2006-01-01 00:00:00

abstract：:The NAGLU challenge of the fourth edition of the Critical Assessment of Genome Interpretation experiment (CAGI4) in 2016, invited participants to predict the impact of variants of unknown significance (VUS) on the enzymatic activity of the lysosomal hydrolase α-N-acetylglucosaminidase (NAGLU). Deficiencies in NAGLU ac...

journal_title：Human mutation

authors： Clark WT,Kasak L,Bakolitsa C,Hu Z,Andreoletti G,Babbi G,Bromberg Y,Casadio R,Dunbrack R,Folkman L,Ford CT,Jones D,Katsonis P,Kundu K,Lichtarge O,Martelli PL,Mooney SD,Nodzak C,Pal LR,Radivojac P,Savojardo C,Shi

更新日期：2019-09-01 00:00:00

abstract：:Here we present a computational model, Score of Unified Regulatory Features (SURF), that predicts functional variants in enhancer and promoter elements. SURF is trained on data from massively parallel reporter assays and predicts the effect of variants on reporter expression levels. It achieved the top performance in ...

journal_title：Human mutation

authors： Dong S,Boyle AP

更新日期：2019-09-01 00:00:00

abstract：:Determining the haplotypes in a diploid individual is a major technical challenge in genetic studies of human complex traits. Here we report a method of molecular haplotyping by directly imaging multiple polymorphic sites on individual DNA molecules simultaneously. DNA fragments amplified by long-range PCR were labele...

journal_title：Human mutation

authors： Xiao M,Gordon MP,Phong A,Ha C,Chan TF,Cai D,Selvin PR,Kwok PY

更新日期：2007-09-01 00:00:00

abstract：:RAB40AL has been reported as the locus for Martin-Probst syndrome (MPS), an X-linked deafness-intellectual disability syndrome. The report was based on segregation of a missense change p.D59G with the disease in a single family and in vitro localization studies. We found the p.D59G variant by whole-exome sequencing in...

journal_title：Human mutation

authors： Ołdak M,Ścieżyńska A,Młynarski W,Borowiec M,Ruszkowska E,Szulborski K,Pollak A,Kosińska J,Mueller-Malesińska M,Stawiński P,Szaflik JP,Płoski R

更新日期：2014-10-01 00:00:00

abstract：:We describe ribo-polymerase chain reaction (PCR), a method for the preparation of chimeric RNA/DNA. The RNA/DNA chimeric nucleic acids are generated directly from genomic DNA starting templates with two locus-specific primers, three nucleotides in their deoxy form and the fourth in its ribo form, a DNA polymerase capa...

journal_title：Human mutation

authors： Mauger F,Bauer K,Semhoun J,Myers TW,Gelfand DH,Gut IG

更新日期：2012-06-01 00:00:00

abstract：:Nuclear receptor subfamily 5 group A member 1/Steroidogenic factor 1 (NR5A1; SF-1; Ad4BP) mutations cause 46,XY disorders of sex development (DSD), with phenotypes ranging from developmentally mild (e.g., hypospadias) to severe (e.g., complete gonadal dysgenesis). The molecular mechanism underlying this spectrum is un...

journal_title：Human mutation

authors： Sreenivasan R,Ludbrook L,Fisher B,Declosmenil F,Knower KC,Croft B,Bird AD,Ryan J,Bashamboo A,Sinclair AH,Koopman P,McElreavey K,Poulat F,Harley VR

更新日期：2018-12-01 00:00:00

abstract：:We have determined the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT; HPRT1) deficiency in eight Lesch-Nyhan patients and in five partially HPRT deficient patients with mild to severe neurologic symptoms. Eight of these thirteen mutations have not been previously described. HPRT Zaragoza II (...

journal_title：Human mutation

authors： Torres RJ,Mateos FA,Molano J,Gathoff BS,O'Neill JP,Gundel RM,Trombley L,Puig JG

更新日期：2000-04-01 00:00:00

abstract：:Inactivation of the adenomatous polyposis coli (APC) gene is an early event in sporadic colorectal cancer. Somatic mutations have also been detected in cancers of the stomach, pancreas, thyroid, ovary and breast. Over 95% of the mutations reported in the APC gene are frameshift and nonsense mutations. The large exon 1...

journal_title：Human mutation

authors： Sørlie T,Bukholm I,Børresen-Dale AL

更新日期：1998-01-01 00:00:00

abstract：:Familial hypercholesterolemia (FH) is at least twofold more prevalent in French Canadians from Québec than in most Western populations. Although our recent data confirmed this high frequency of heterozygous FH in our pediatric population with hypercholesterolemia, none of the five established molecular defects for the...

journal_title：Human mutation

authors： Assouline L,Leitersdorf E,Lambert M,Reshef A,Feoli-Fonseca JC,Levy E

更新日期：1997-01-01 00:00:00

abstract：:Cystic fibrosis, the most common lethal genetic disease in the white population, is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Analysis of DNA from a pancreatic insufficient patient by chemical mismatch cleavage and subsequent DNA sequencing led to the identification of...

journal_title：Human mutation

authors： Strong TV,Smit LS,Nasr S,Wood DL,Cole JL,Iannuzzi MC,Stern RC,Collins FS

更新日期：1992-01-01 00:00:00

abstract：:A broad region of chromosome 10 (chr10) has engendered continued interest in the etiology of late-onset Alzheimer Disease (LOAD) from both linkage and candidate gene studies. However, there is a very extensive heterogeneity on chr10. We converged linkage analysis and gene expression data using the concept of genomic c...

journal_title：Human mutation

authors： Liang X,Slifer M,Martin ER,Schnetz-Boutaud N,Bartlett J,Anderson B,Züchner S,Gwirtsman H,Gilbert JR,Pericak-Vance MA,Haines JL

更新日期：2009-03-01 00:00:00

abstract：:Hypophosphatasia is a rare inherited disorder characterized by defective bone mineralization and deficiency of serum and tissue liver/ bone/kidney tissue alkaline phosphatase (L/B/K ALP) activity. We report the characterization of tissue-nonspecific alkaline phosphatase (TNSALP) gene mutations in a series of 9 familie...

journal_title：Human mutation

authors： Taillandier A,Zurutuza L,Muller F,Simon-Bouy B,Serre JL,Bird L,Brenner R,Boute O,Cousin J,Gaillard D,Heidemann PH,Steinmann B,Wallot M,Mornet E

更新日期：1999-01-01 00:00:00

abstract：:PCDH19 encodes protocadherin 19 on chromosome Xq22.3. This 1,148-amino-acid protein, highly expressed during brain development, could play significant roles in neuronal migration or establishment of synaptic connections. PCDH19 is composed of six exons, with a large first exon encoding the entire extracellular domain ...

journal_title：Human mutation

authors： Depienne C,LeGuern E

更新日期：2012-04-01 00:00:00

abstract：:TP63 germ-line mutations are responsible for a group of human ectodermal dysplasia syndromes, underlining the key role of P63 in the development of ectoderm-derived tissues. Here, we report the identification of two TP63 alleles, G134V (p.Gly173Val) and insR155 (p.Thr193_Tyr194insArg), associated to ADULT and EEC synd...

journal_title：Human mutation

authors： Monti P,Russo D,Bocciardi R,Foggetti G,Menichini P,Divizia MT,Lerone M,Graziano C,Wischmeijer A,Viadiu H,Ravazzolo R,Inga A,Fronza G

更新日期：2013-06-01 00:00:00

abstract：:Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disease with a wide range of clinical manifestation. In 90-95% of the cases it is caused by 21-hydroxylase deficiency (OMIM #201910) due to mutations of the CYP21 gene (GDB Accession #M12792). In most cases the CYP21-inactivating point mutations are ...

journal_title：Human mutation

authors： Krone N,Braun A,Roscher AA,Schwarz HP

更新日期：1999-01-01 00:00:00

abstract：:Idiopathic pulmonary fibrosis (IPF) is a genetic heterogeneous disease with high mortality and poor prognosis. However, a large fraction of genetic cause remains unexplained, especially in sporadic IPF (∼80% IPF). By systemically reviewing related literature and potential pathogenic pathways, 92 potentially IPF-relate...

journal_title：Human mutation

authors： Deng Y,Li Z,Liu J,Wang Z,Cao Y,Mou Y,Fu B,Mo B,Wei J,Cheng Z,Luo L,Li J,Shu Y,Wang X,Luo G,Yang S,Wang Y,Zhu J,Yang J,Wu M,Xu X,Ge R,Chen X,Peng Q,Wei G,Li Y,Yang H,Fang S,Zhang X,Xiong W

更新日期：2018-09-01 00:00:00

abstract：:Galactocerebrosidase (GALC) is a lysosomal beta-galactosidase responsible for the hydrolysis of the galactosyl moiety from several galactolipids, including galactosylceramide and psychosine. The deficiency of this enzyme results in the autosomal recessive disorder called Krabbe disease. It is also called globoid cell ...

journal_title：Human mutation

authors： Wenger DA,Rafi MA,Luzi P

更新日期：1997-01-01 00:00:00

abstract：:The need for detection of minority mutations (i.e., a few mutants within a high excess of wild-type alleles) arises frequently in the field of cancer and molecular genetics. Current mutation detection technologies are limited by several technical factors when it comes to the detection of minority point mutations, incl...

journal_title：Human mutation

authors： Mike Makrigiorgos G

更新日期：2004-05-01 00:00:00